These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 24194866)

  • 1. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
    Yang S; Dai P; Liu X; Kang D; Zhang X; Yang W; Zhou C; Yang S; Yuan H
    PLoS One; 2013; 8(10):e77149. PubMed ID: 24194866
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
    Chen H; Jiang L; Xie Z; Mei L; He C; Hu Z; Xia K; Feng Y
    Biochem Biophys Res Commun; 2010 Jun; 397(1):70-4. PubMed ID: 20478267
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
    Wang J; Lu Y; Yan X; Shen T; Li L; Rao Y; Tan B; Xiong W; Cheng J; Zhao Y; Yuan H
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1770. PubMed ID: 34323021
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.
    Liu Q; Cheng J; Lu Y; Zhou J; Wang L; Yang C; Yang G; Yang H; Cao J; Zhang Z; Sun Y
    Int J Pediatr Otorhinolaryngol; 2020 Mar; 130():109806. PubMed ID: 31812001
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
    Sun L; Li X; Shi J; Pang X; Hu Y; Wang X; Wu H; Yang T
    Sci Rep; 2016 Oct; 6():35498. PubMed ID: 27759048
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
    Yang S; Wang C; Zhou C; Kang D; Zhang X; Yuan H
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1520. PubMed ID: 33045145
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.
    Nasirshalal M; Panahi M; Javanshir N; Salmani H
    J Clin Lab Anal; 2021 Jun; 35(6):e23792. PubMed ID: 33942382
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.
    Pang X; Zheng X; Kong X; Chai Y; Wang Y; Qian H; Yang B; Wu C; Chu J; Yang T
    Am J Med Genet A; 2019 Feb; 179(2):243-248. PubMed ID: 30549420
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].
    Chen J; Yang SZ; Liu J; Han B; Wang GJ; Zhang X; Kang DY; Dai P; Young WY; Yuan HJ
    Yi Chuan; 2008 Apr; 30(4):433-8. PubMed ID: 18424413
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
    Yang T; Li X; Huang Q; Li L; Chai Y; Sun L; Wang X; Zhu Y; Wang Z; Huang Z; Li Y; Wu H
    Clin Genet; 2013 Jan; 83(1):78-82. PubMed ID: 22320238
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.
    Sun J; Hao Z; Luo H; He C; Mei L; Liu Y; Wang X; Niu Z; Chen H; Li JD; Feng Y
    J Hum Genet; 2017 Jul; 62(7):703-709. PubMed ID: 28356565
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the
    Barashkov NA; Romanov GP; Borisova UP; Solovyev AV; Pshennikova VG; Teryutin FM; Bondar AA; Morozov IV; Khusnutdinova EK; Posukh OL; Burtseva TE; Odland JØ; Fedorova SA
    Int J Circumpolar Health; 2019 Dec; 78(1):1630219. PubMed ID: 31213145
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel
    Kumawat D; Kumar V; Sahay P; Nongrem G; Chandra P
    Indian J Ophthalmol; 2019 Sep; 67(9):1481-1483. PubMed ID: 31436206
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.
    Ren S; Chen X; Kong X; Chen Y; Wu Q; Jiao Z; Shi H
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1128. PubMed ID: 31960627
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.
    Yan X; Zhang T; Wang Z; Jiang Y; Chen Y; Wang H; Ma D; Wang L; Li H
    J Genet Genomics; 2011 Dec; 38(12):585-91. PubMed ID: 22196401
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The value of MLPA in Waardenburg syndrome.
    Milunsky JM; Maher TA; Ito M; Milunsky A
    Genet Test; 2007; 11(2):179-82. PubMed ID: 17627390
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
    Zardadi S; Rayat S; Hassani Doabsari M; Keramatipour M; Morovvati S
    BMC Med Genomics; 2021 Sep; 14(1):230. PubMed ID: 34544414
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
    Wang L; Qin L; Li T; Liu H; Ma L; Li W; Wu D; Wang H; Guo Q; Guo L; Liao S
    Mol Med Rep; 2018 Jan; 17(1):172-178. PubMed ID: 29115496
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
    Morell R; Spritz RA; Ho L; Pierpont J; Guo W; Friedman TB; Asher JH
    Hum Mol Genet; 1997 May; 6(5):659-64. PubMed ID: 9158138
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
    Lautenschlager NT; Milunsky A; DeStefano A; Farrer L; Baldwin CT
    Genet Anal; 1996 Jul; 13(2):43-4. PubMed ID: 8880147
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.